ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) (rs121912280)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718818 SCV000849682 likely benign Seizures 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767931 SCV000898607 uncertain significance Epilepsy, nocturnal frontal lobe, type 1 2017-10-26 criteria provided, single submitter clinical testing CHRNA4 NM_000744.6 exon 5 p.Arg487Gln (c.1460G>A): This variant has been reported in the literature in 1 individual with Sporadic Amyotrophic Lateral Sclerosis (SALS) (Sabatelli 2009 PMID:19628475). This variant is present in 0.4% (85/1944) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs121912280). This variant Glutamine (Gln) is present in >5 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186949 SCV000331400 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000186949 SCV000240520 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000528520 SCV000658073 benign Autosomal dominant nocturnal frontal lobe epilepsy 2017-11-19 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084608 SCV000116744 not provided Tobacco use disorder no assertion provided not provided

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